Neuobičajeni klinički slučajevi koji oponašaju akutni diseminirani encefalomijelitis

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated monophasic inflammatory demyelinating disorder of the central nervous system which poses a diagnostic challenge. We report on six cases of different etiologies that mimicked the clinical and radiologic findings of ADEM. The cases were collected from four different reference hospitals in Turkey. The same radiologist from the Akdeniz University Faculty of Medicine examined the magnetic resonance images of all patients. Three (50%) patients had antecedent infections. Initial symptoms of the patients were as follows: fever in 50%, altered consciousness in 33.3% and convulsions in 16.7% of patients. Neurologic examination showed long tract signs in 83.3%, ataxia in 50% and altered consciousness in 50% of patients. Cerebrospinal fluid examination revealed lymphocytic pleocytosis only in case 6. Four patients received steroid pulse therapy and one of these initially underwent intravenous immunoglobulin therapy. The patients’ definitive diagnoses were as follows: paraspinal neuroblastoma-associated paraneoplastic syndrome; histiocytic sarcoma; mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in one patient each, while two patients had hemophagocytic syndrome. The present case series demonstrated difficulties in diagnosing ADEM while revealing extremely rare disorders that mimic ADEM radiologically and clinically.Akutni diseminirani encefalomijelitis (ADEM) je immuno posredovana monofazna upalna demijelinizacijska bolest središnjega živčanog sustava koja je dijagnostički vrlo zahtjevna. Prikazuje se šest slučajeva različite etiologije gdje su klinički i radiološki nalazi oponašali ADEM. Slučajevi su prikupljeni iz četiri različite referentne bolnice u Turskoj. Slikovne prikaze dobivene magnetskom rezonancom u svih bolesnika pregledao je isti radiolog s Medicinskog fakulteta Sveučilišta u Akdenizu. Troje (50%) bolesnika imalo je prethodnu infekciju. Početni simptomi bili su groznica u 50%, poremećaj svijesti u 33,3% te konvulzije u 16,7% bolesnika. Neurološki pregled pokazao je znakove oštećenja srednjeg ili gornjeg dijela leđne moždine (long tract signs) u 83,3%, ataksiju u 50% te poremećaj svijesti u 50% bolesnika. Pregled likvora otkrio je limfocitnu pleocitozu samo u slučaju br. 6. Četiri bolesnika primilo je pulsnu steroidnu terapiju, a jedan od njih je prvotno bio na terapiji intravenskim globulinom. U bolesnika su postavljene sljedeće konačne dijagnoze: paraneoplastični sindrom udružen s paraspinalnim neuroblastomom; histiocitni sarkom; mitohondrijska miopatija, encefalopatija, laktična acidoza i epizode slične moždanom udaru (MELAS); i cerebralna autosomna dominantna arteriopatija sa subkortikalnim infarktima i leukoencefalopatijom (CADASIL) u po jednog bolesnika, te hemofagocitni sindrom u dvoje bolesnika. Ovaj niz slučajeva ukazuje na teškoće u dijagnosticiranju ADEM-a i istodobno pokazuje iznimno rijetke bolesti koje radiološki i klinički oponašaju ADEM

Non-traumatic atlanto-axial rotatory subluxation: A rare cause of neck stiffness

Atlanto-axial rotatory subluxation is a rare condition in childhood. A sudden onset of pain and limitation in neck movements are the most common presenting features. Usually, a previous trauma history exists. This study presents a case of an 18-month-old male with neck stiffness and pain in neck through palpation without trauma in his history but with rotatory subluxation of 30° in atlanto-axial joint observed in his cervical imaging. With this case, the aim was to emphasize the necessity for considering the atlanto-axial subluxation in patients less than five years old diagnosed with neck stiffness in differential diagnosis even if a trauma is not available in their histories. Keywords: Neck stiffness, Childhood, Subluxatio

Importance of back blow maneuvers in a 6 month old patient with sudden upper airway obstruction

Foreign body aspiration in children under four years old is one of the most frequently observed reasons for accident related deaths. It is more common in this age group due to inadequate swallowing functions and exploration of objects with the mouth. The most frequently encountered foreign bodies are food and toy parts. Life threatening complete laryngeal obstruction is rarely observed. Dyspnea, hypersalivation, cough and cyanosis can be seen. The basic and life-saving treatment approach is complete removal of foreign body maneuvers in the sudden onset of total obstruction. Here we report a six-month old male, who ingested a foreign body and was treated with back blow maneuvers successfully. In this case we emphasized the importance of back blow maneuvers. Keywords: Upper airway obstruction, Child, Back blows maneuver

Electrical Status Epilepticus During Slow-wave Sleep (ESES): Current Perspectives

Electrical status epilepticus during slow-wave sleep (ESES) is an epilepsy syndrome with sleep-induced epileptic discharges and acquired impairment of cognition or behavior. Since the disease's original description in 1971, no clear consensus has emerged on diagnostic criteria or optimal treatment. The treatment of ESES can be challenging, often including numerous antiepileptic drugs, immunomodulatory agents, and even surgical interventions. There is little evidence to guide treatment because only retrospective studies and case reports on the efficacy of treatment of ESES are present in literature. In this paper, we aim to analyze the etiopathogenesis of ESES in the new genetic era and to evaluate the treatment modalities in accordance with the genetic data and electroclinic spectrum of ESES

Electrical status epilepticus in sleep (ESES)/continuous spikes and waves during slow sleep (CSWS) syndrome in children: An electroclinical evaluation according to the EEG patterns

WOS: 000381248000021PubMed ID: 27337163Objective: The aim of this study was to describe the electroclinical spectrum in children with electrical status epilepticus in sleep (ESES)/continuous spikes and waves during slow sleep (CSWS) syndrome according to the EEG patterns. Methods: Clinical data of 44 patients with ESES/CSWS syndrome who were treated and followed at least two years were analyzed. Records of EEGs of patients were reevaluated to determine two aspects of the ESES pattern: (1) the spike-wave index (SWI) on the NREM sleep EEG (Group I: typical vs. atypical ESES pattern (33/11 patients)) and (2) the area of maximum amplitude of continuous epileptic activity (Group II: anterior vs. posterior ESES pattern (33/11 patients)). Results: Symptomatic etiology was more defined in patients with the typical ESES pattern (40%) than the group with the atypical ESES pattern (9%) by a factor of four. All patients were receiving at least two antiepileptic drug (AED) treatments. Eighteen patients (41%) received AEDs plus ACTH therapy. Complete disappearance of the ESES pattern on the EEG was observed in 18 patients (41%), more than 50% reduction was observed in five patients (11%), less than 50% reduction was observed in eight patients (18%), and no response was observed in five patients (11%). No significant difference was found when comparing the groups in terms of reduction of seizures and the SWI. Seizure outcome at the two-year follow-up was similar between the group with ESES treated with AEDs plus ACTH and the group with ESES treated with AEDs without ACTH therapy. Significance: This study demonstrated that the rate of the SWI (typical vs. atypical ESES) and the maximum amplitude of the ESES pattern (anterior vs. posterior) have no significant correlation with seizure control and reduction of the SWI on the EEG in children with ESES syndrome. (C) 2016 Elsevier Inc. All rights reserved

A Rare Cause of Fever: Subdural Empyema

Fever is a common cause of presenting to emergency departments in children. Furthermore when there is no reason for fever; it is a reason for anxiety for parents and clinicians. The most common cause of fever is infections for all ages. The clinicians should investigate the most common areas and causes to determine the origin of the fever. If the origin of fever cannot be detected with routine examination, intraabdominal and perianal areas should be investigated for abscess. Subdural empyema is a very rare condition in children. Fever, altered mental status, headache, seizure and focal neurological defects can be seen in most of the patients with subdural empyema. The predisposition factors such as trauma, sinusitis or history of intracranial operation are usually determined. We present a 13-year-old male patient in this report, who had fever of unknown origin without neurological defects or predisposition factor and who was diagnosed with subdural empyema

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever) - different faces with separate treatments: two cases and review of the literature

The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies

A PEDIATRIC PATIENT WITH FAMILIAL MEDITERRANEAN FEVER PRESENTED WITH VOMITING

Familial Mediterranean fever is inherited as an autosomal recessive trait affecting mainly persons of Mediterranean descent, especially Arabs, Jews, Armenians and Turks. Fever peritoneal and pleural inflammation, arthritis, erysipelas-like erythema, and arthralgia are well known features of familial Mediterranean lever We herein report a three-year-old boy, who presented with vomiting and agitation attacks and was found to be a compound heterozygote for M694V/M6801 mutation of the MEFV gene